| P50 | author | Evan E. Eichler | Q5415373 |
| | Santhosh Girirajan | Q47503889 |
| P2093 | author name string | James R Priest | |
| | Tiffany H Vu | |
| | Michael A Portman | |
| | Aaron Olson | |
| P2860 | cites work | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | Q24644530 |
| | Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia | Q24650395 |
| | Most mammalian mRNAs are conserved targets of microRNAs | Q24655061 |
| | Regulation of cardiac microRNAs by serum response factor | Q28586225 |
| | Recent segmental duplications in the human genome | Q29616016 |
| | A copy number variation morbidity map of developmental delay | Q29616033 |
| | Phospholipase Cbeta1b associates with a Shank3 complex at the cardiac sarcolemma | Q30155929 |
| | The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations | Q30776456 |
| | Genome-wide discovery of human heart enhancers | Q33523952 |
| | Atrioventricular canal defect without Down syndrome: a heterogeneous malformation | Q33687760 |
| | Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome | Q33996032 |
| | Heterogeneity of genetic modifiers ensures normal cardiac development | Q34193363 |
| | Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients | Q34612125 |
| | Population-genetic properties of differentiated human copy-number polymorphisms | Q34687598 |
| | Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis | Q35195088 |
| | A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. | Q35195145 |
| | Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder | Q35201073 |
| | A simple array platform for microRNA analysis and its application in mouse tissues. | Q36003392 |
| | The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies | Q37259226 |
| | De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot | Q37353964 |
| | Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. | Q38348489 |
| | A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population | Q39653732 |
| | Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level. | Q52030280 |
| | High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. | Q52916473 |
| | Gq-initiated cardiomyocyte hypertrophy is mediated by phospholipase Cbeta1b. | Q54735777 |
| | Microarray based analysis of 3p25-p26 deletions (3p- syndrome). | Q55052240 |
| | Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project | Q57315750 |
| | Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome | Q57983364 |
| | Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21 | Q72253491 |
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1279-1284 | |
| P577 | publication date | 2012-04-23 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. | |
| P478 | volume | 158A | |